Chilean 14-Year-Old With Cystic Fibrosis Asks To Be Allowed To Die

'I am tired of living with this disease'

A video of a 14-year-old Chilean girl with cystic fibrosis asking to be allowed to die has captured attention across the Spanish-speaking world and launched a debate about the right-to-die movement in a region with strong Catholic influence.

“I am asking to speak urgently to the president because I am tired of living with this disease, and she can authorize the injection to put me to sleep forever,” said a teary-eyed Valentina Maureira, addressing Chilean President Michelle Bachelet.

The video, which Spanish media outlets said had been posted to Facebook Sunday evening, shows Maureira sitting on a hospital bed speaking directly to the camera. She explained later that she was “tired of continuing to fight,” according to a translation of a BBC interview. Cystic fibrosis—a genetic disorder that causes problems in the respiratory, digestive and reproductive systems—is a terminal illness that typically results in death in a person’s 30s. In Chile, one in 8,000 newborns has been diagnosed with the disease in recent years, the BBC reported.

Fredy Maureira, Valentina’s father, told radio station Bío Bío Chile that the video had come as a surprise to him, though he said he knew that his daughter had been unhappy in recent months.

“I told her: ‘Daughter, if you want to fight, we will fight. You know how your disease is,'” he told the BBC.

It seems unlikely that Bachelet could authorize the procedure. Presidential spokesperson Alvaro Elizalde said that euthanasia violates Chilean law. Instead, he said, the government would provide Maureira with medical and mental health resources.

“We have to be completely clear, the current norm, the current law in Chile does not allow the government to agree to a request of this nature,” he said, according to Reuters.

The story had spread throughout the Spanish-speaking world by Thursday, with major Spanish language outlets on three continents covering the news, and inspired thousands of Facebook likes.

“I did not think it would get so high,” she told the BBC. “I liked it because [it] motivates people. And this [disease] is a reality.”

Siblings With Autism Less Similar Than Previously Thought, Study Says

Surprising study has implications for care

The majority of siblings diagnosed with autism do not share the same genetic mutation, according to a new study.

Using whole-genome sequencing technology, scientists looked at the genetic material of 85 families that had two children diagnosed with autism, the New York Times reports. Of those sibling pairs, about 30% shared the same genetic glitch, while roughly 70% did not. Those who shared the same genetic issue had similar habits compared to those who didn’t.

“We anticipated that, more often than not, there would be shared inheritance” said Dr. Stephen Scherer, professor of medicine at the University of Toronto and the project’s research director. “That wasn’t the case.”

Some experts say the study, which appears in the journal Nature Medicine, will likely lead to changes in hospitals, whose staff sometimes study the oldest child with autism to gain insight into the younger child’s diagnosis. Hospitals also use genetic profiles to advise parents about the likelihood of having another child with the same diagnosis.

“This study makes us step back and realize we’re not necessarily going to get as much predictive value out of genetic mapping as we thought,” Helen Tager-Flusberg, a Boston University developmental neuroscientist who didn’t work on the study, told the Times.

Parents May Be Able to Lower Kids’ Autism Risk

With the help of videos and trained therapists, parents of at-risk kids may eventually help their toddlers to avoid an autism diagnosis

Autism experts still disagree over a lot of things about the developmental disorder, but there is one idea that unites most of them — that the earlier the condition can be diagnosed, and the sooner interventions, from medications to behavioral therapies, can be tried, the more likely that child will be to develop normally.

The latest research, published Wednesday in the journal Lancet Psychiatry, pushes this idea even further by intervening with one of the youngest group of babies yet — those who are 7 months to 10 months old. Jonathan Green from the University of Manchester, in England, and his colleagues say that teaching parents to get more in tune with the signals coming from infants who are at high risk of developing autism can change their babies’ behavior and shift them toward a pattern of more normal development.

The scientists focused on a group of 54 families with at least one autistic child. About 20% of siblings of autistic children end up developing the disorder themselves, so Green and his team randomly assigned parents of these babies to either receive a new parent-training program or to get no additional intervention at all. While previous studies have also looked at such parenting programs, most have focused on toddlers once they have been diagnosed with autism, which generally occurs around age 3.

During the training sessions, which occurred over five months, a therapist visited the home and videotaped parents interacting with their infants and then analyzed the behaviors. Rather than assuming the babies would make sounds or fidget if they wanted something, parents were asked to pay close attention to the signs their infants were providing, and find ways to recognize and respond to them so the babies would be more likely to engage and interact with their parents rather than turn away. After at least six such sessions, the infants of parents who did this showed improvements in their ability to pay attention, as well as better flexibility in shifting their attention from one object to another. Presumably the plasticity, or flexibility of the developing brain, especially in the first year of life, is making it possible to redirect some of the processes that may be veering toward autism.

“Taken together, we think all of these improvements across different areas of measurement suggest that we improved risk markers for autism at this age,” Green said during a news conference discussing the findings. “Therefore logically we can say that we potentially lowered the risk of later autism development in these infants. At this point we think the results are promising.”

He stressed that the babies have not been tested yet for autism, which will occur when they are around 3 years old, but that the changes he and his team saw strongly suggest that the path to autism may have been interrupted, or at least suppressed in some way. “What we hope is to eventually demonstrate that by changing something critical in the environment, that we can push the organic brain-development process, the neurocognitive process, back on a typical trajectory,” says Tony Charman, a professor of psychology at King’s College London and one of the co-authors. “That’s the theoretical hope.”

The findings aren’t the first to show that intervening at such an early age with high-risk babies can potentially lower their chances of developing autism. In 2014, researchers at the University of California, Davis, tested an intensive parenting model in which parents engaged in intensive, focused play with their infants who were 6 months old, and achieved similarly encouraging results. In that study, the infants even showed brain changes that suggested their cognitive processes were normalizing to look more like those of children unaffected by autism. In Green’s study, they also saw evidence that the infants’ ability to shift attention improved after the parenting sessions to look more like those at low risk of developing autism.

Green said that the findings need to be repeated with dozens more families, but he’s encouraged by the initial success. “These parents need to have enhanced skills to deal with some of the biological vulnerability they are faced with in their children,” he said. “There are great advantages to parent-mediated interventions of this kind; once the parents are skilled up in this way, the therapy can go on 24-7 at home. It’s important to intervene throughout childhood.”

8-Year-Old Raises More Than $1 Million to Help Cure His Friend’s Rare Disease

Every cent made from Dylan’s book goes to trying to find a cure for his friend's disease

Some best friends will do anything for each other – even if it means raising more than $1 million.

In 2012, when Dylan Siegel, then 6, found out his best pal, Jonah Pournazarian, had a rare liver disorder called glycogen storage disease type 1B, he decided to write a book to help raise money for a cure.

Dylan describes his friendship with Jonah as “awesome as a chocolate bar,” so he called the book Chocolate Bar and started selling copies for $20 each, according to ABC.

To date, nearly 25,000 copies have been sold in all 50 states and more than 60 countries worldwide.

Jonah, now 9, is one of just 500 children in the world with the disease, which has no cure. He fights dangerously low blood sugar and has to be fed cornstarch and water every few hours through a feeding tube in his stomach. It’s the only treatment for a disease that, left untreated, can cause hypoglycemia, seizures and even death.

The money raised has financed the hiring of a new geneticist and studies resulting in new gene-therapy treatments, according to ABC.

It has also kept the facility open and on track to find a cure within several years.

“It is now reality. It’s not just a dream that these children can be cured,” Dr. Weinstein told ABC affiliate KGO-TV in February.

“I am so happy that we finally reached my million-dollar goal,” Dylan said in a statement. “And that kids around the world have been inspired by my story. I will continue to raise money until Jonah’s disease is cured forever.”

Why Screening Young Children for Language Delays Isn’t Helpful

Evidence to support language screening for all young children is weak

Doctors and new parents are eager to do everything they can to help young babies develop well. But the latest research shows that testing infants for signs of speech or language difficulties may not end up helping the young ones.

The U.S. Preventive Services Task Force, a government-appointed group of experts that reviews existing health and behavior data, analyzed the available studies on how effective screening for speech and language delays during infancy can be in improving children’s communication skills later. Most such screening is done by pediatricians during routine well-child visits and includes specific tests requiring parents to answer questions about their babies’ development, as well as the doctors’ own observations of the babies’ behavior and responses to verbal cues.

The task force reviewed 24 studies that looked at how accurate the most popular screening tools are. The trials involved children younger than five years old and revealed that the data is not strong enough to support using these studies as a reliable way to identify children who may have speech or language delays or who might have the early symptoms of language disorders.

The group came to a similar conclusion when it evaluated interventions designed to improve children’s development in speech and language areas. The studies showed inconsistent results and were of varying quality.

“There’s not enough evidence to say that these instruments should be used regularly,” says Dr. Alex Kemper, professor of pediatrics at Duke University and a member of the task force. “It could be that the instruments work well, and it could be that they don’t; we just don’t have enough evidence to say that all children ought to receive these tests at well-child visits routinely. We just don’t know whether or not they lead to benefit.”

In fact, the committee noted, the tests could contribute to harm, as the identification of potential problems could cause anxiety and result in time, effort and money spent by parents to address the problem. While an estimated 2.6% of children between ages three and five years received additional services for speech and language disabilities in 2007, the researchers say that many children who may be slower to develop speech or language skills eventually catch up and may not need specific services or interventions.

In his own practice, Kemper says that he employs the screening only when he or the parents of infants have concerns about a child’s language development. And that should be the guideline for other physicians and parents as well, he says—at least until stronger data can provide support for the idea of screening all infants, and for determining how to conduct the screening so that infants who need the most help can receive it.

ADHD Linked to the Air Pregnant Women Breathe

Alan Hicks—Getty ImagesHeavy traffic can pollute the air with compounds that can contribute to ADHD

Everything an expectant mother does can have an impact on her baby’s development—including the air she breathes

Research has long connected what a mom-to-be eats and drinks to the health of her baby, and recent studies have even linked behavioral experiences such as stress, sleep and mood to the growing fetus’s development.

Frederica Perera, director of the center for environmental health sciences at the Mailman School of Public Health at Columbia University, and her colleagues focused in on how the pollutants in the air that pregnant women breathe can affect their babies’ cognitive development. Perera previously found a correlation between polycyclic aromatic hydrocarbons (PAHs) emitted by burning fossil fuels (such as in car exhaust and some forms of residential heating) to developmental delays by age three, reduced IQ in kindergartners and attentional problems by age six. So the team looked specifically at symptoms associated with concentration and evaluated how these effects connected to PAHs might be contributing to ADHD.

The scientists measured the level of PAHs in both the cord blood retrieved when the mothers gave birth and the mothers’ blood following delivery. They also collected urine samples from the children at age three or five years and analyzed them for PAH levels. The children born to mothers with higher levels of PAH during pregnancy had five-fold increased odds of showing symptoms of ADHD than those who were born to mothers with lower levels. The effect remained strong even after the researchers adjusted for the babies’ exposure to air pollution and smoking after birth.

“This is a new finding, and if the PAHs are identified as a contributor to ADHD, that opens up new avenues for preventing ADHD,” says Perera.

PAHs, says Perera, circulate in the body for a long time, so even brief exposures could contribute to changes in the body. And each person processes the chemicals differently. Some may be more prone to breaking down the compounds into their potentially toxic elements, while others are less affected by the exposure.

While mothers may not be able to control some exposures, such as those from traffic and heating sources, there are some ways that expectant women can reduce their risk. Pushing local legislators to adopt clean air laws is one way to improve air quality, and on a more personal level, families can make sure that cooking areas have proper ventilation, avoid burning candles and incense and other sources of PAHs, and most importantly, ensure that they aren’t exposed to tobacco smoke. “Air quality is a policy problem, but individuals can be empowered to take steps,” Perera says.

Women who are pregnant can also eat more antioxidants from sources like fresh fruits and vegetables, since these can counteract some of the oxidative damage that PAHs wreak on fetal cells.

Perera stresses that limiting exposure to PAHs isn’t the only answer to reducing the increasing rate of ADHD in the country. Genetic and other environmental factors all contribute to the disorder, but identifying as many potential factors as possible could start to reduce the effect that the chemicals have not just on mothers, but on their developing babies as well.

Study: 96% of Deceased NFL Players’ Brains Had Degenerative Disease

Charles Dharapak—APThe seal affixed to the front of the Department of Veterans Affairs building in Washington on June 21, 2013.

The brain bank's research furthers the argument that football is linked brain injury

The brains of 76 out of 79 (96%) of deceased NFL players showed signs of a degenerative brain disease, according to a study released Tuesday by the nation’s largest brain bank.

The Department of Veterans Affairs’ brain repository in Massachusetts, a collaboration between VA and Boston University’s CTE Center, found that the instance of chronic traumatic encephalopathy (CTE), a brain condition that causes dementia and other cognitive problems, was so high that it doubled the number of CTE cases previously reported by the institution, PBS reported.

“Obviously this high percentage of living individuals is not suffering from CTE,” Dr. Ann McKee, the brain bank’s director, told PBS. “Playing football, and the higher the level you play football and the longer you play football, the higher your risk.”

Doctors at the brain repository have previously conducted research on brain tissue samples from professional, semi-professional, college and high-school football players. The rate of CTE, while lower than 96%, still remained high, at 80%.

The studies were made possible by football players who volunteered their brains for scientific research, because CTE can only be diagnosed posthumously, according to PBS. As a result, doctors who conducted the study said their sample may be skewed, as many volunteers donated their brains because when they were alive, they already suspected that they suffered from CTE.

Still, the findings have added fuel to heated discussions that football—both at professional and lower levels—may be linked to degenerative brain diseases like Alzheimer’s, as a recent study showed. The NFL has also come under fire for allegedly covering up the risks of head injuries and concussions, which are linked to individuals who suffer from CTE.

How to Improve a Baby’s Language Skills Before They Start to Talk

Researchers say playing a series of sounds when infants are four months old could speed up the way babies process language and make them linguistic stars when they’re older. How babies respond to the sounds can also predict which infants will have trouble with language as well

The first few months of a baby’s life come with a flurry of challenges on a still-developing brain. Sights, sounds, smells and touches as well as other emotional experiences flood in, waiting to be processed and filed away as the foundation for everything from language to emotions and how to socialize with others. What happens if things are not finding their right place in the brain during these critical months? Some research suggests it results in developmental delays later on—and that’s just what neuroscientist April Benasich and her colleagues from Rutgers University found in a new study, published in the Journal of Neuroscience.

Previous studies done by both Benasich and others show that the brains of children who learn to speak later or who develop reading disorders like dyslexia showed differences in detecting small differences in speech, such as the difference between da and ba, when they were infants. Other research has come to similar conclusions.

Genetic factors certainly play a role, but up to 10% of the babies Benasich has studied had no family history of developmental problems, yet still showed language trouble when they started talking. That’s why she turned to studying the brain maps of healthy babies before they learned to speak. These routes show how infants detect and respond to sounds in their environment—from words spoken to them to the humming of a dishwasher. In these early months, their brains are primed to sort out this cacophony of auditory stimuli and start making more refined distinctions between them. Doing so requires distinguishing between tiny differences, both in the sounds themselves as well as in frequencies. “Babies do this naturally; this is their job, since they want to be able to pick sounds out quickly and figure out whether they need to pay attention to them,” says Benasich.

For the babies in this study, she adorned them with skull caps studded with electronic sensors that would draw a map of their EEGs as they were presented with different, non-linguistic tones. Some of the babies were played sounds that changed ever so slightly, such as in their tone or frequency, and whenever there was a change, a small video in the corner of a screen they were looking at popped up. The babies naturally turned to watch the video, so the scientists used these eye turns as a signal that the babies had heard and recognized the transition in sounds, and were expecting to see the video. Another group of babies were played the same sounds but without the video training, and a control group didn’t hear the sounds at all.

It wasn’t the sounds themselves that were important, but the changes in them that were key to priming the babies’ brains. Those who were trained to pay attention to the changes in the sounds, for example, showed more robust mapping of language sounds later on when they started to babble; by 18 months, these infants showed brain mapping patterns similar to those in two year olds. They were faster at discriminating different sounds, and quicker to pay attention to even tiny differences in inflection or frequency compared to babies who weren’t given the sounds. The babies who only listened to the sounds without the training fell somewhere between these two groups when it came to their language mapping networks.

Benasich says that the training lays the foundation in babies’ brains to become more efficient in processing language sounds, including very tiny variations among them. Their brains are setting up different neural routes for each sound, like a well-organized airport with separate runways designated for northbound and southbound flights. Other babies were less adept at this, essentially routing every sound through the same neural network, akin to sending every plane off the same runway, leading to delays as some have to bank and redirect in the opposite direction. In similar ways, says Benasich, in language, this cruder processing of sounds could result in delays in reading or speaking or language acquisition, and toddlers end up having to “manually” process the sounds in a more tedious and less automatic process. “Instead of automatically discriminating sounds without pausing, they have to stop and think and what that sound might be, and that leads them to hesitate a little,” she says. “That small hesitation makes a huge difference in how well they learn and process language.”

The training, she says, was minimal – the babies’ parents brought them in for six to eight minute sessions once a week for about six weeks. Yet she was “surprised by how robust the effects are for the babies.”

The study involved healthy babies who did not have risk factors for language disorders, so the training only helped them to enhance their later language learning. But the team is currently studying a group of babies at higher risk of having language deficits, either because of genetic risk factors or by having siblings affected by such disorders. If these babies show different brain patterns compared to those not at risk, then it’s possible that EEG patterns in response to sounds could predict which infants are at risk of developing language problems even before they start to talk.

Benasich is also working on developing her test into a parent-friendly toy that parents can buy and use with their babies; if their babies are developing normally, then the training can only accelerate and enhance their language skills later on, while for those who are struggling, the training could help them to avoid learning disabilities when they start school. It’s not possible to screen every baby, but if parents and doctors are able to take advantage of such a tool, then she hopes that more language-based disorders might be avoided. “Babies naturally do this, but for those who are having trouble, we are guiding them to pay more attention to things that are important in their environment, such as language-based sounds,“ she says. “We think we could make a huge difference in the number of kids who end up with learning problems.”

How Brain Waves May Be the Clue to Diagnosing Autism

Diagnosing autism as early as possible, even before the first noticeable symptoms of social and developmental delays emerge, is becoming a critical strategy for reducing the condition’s most severe symptoms. Experts have long known that children with autism process sensory information – sights and sounds in particular – in different ways than unaffected children.

In a new study published in the Journal of Autism and Developmental Disorders, Sophie Molholm, from the departments of pediatric and neuroscience at Albert Einstein College of Medicine, proposes that those differences may lay the foundation for social and communication deficits in some children later on.

Molholm and her team took electroencephalogram (EEG) readings from more than 40 children aged six years to 17 years diagnosed with autism and compared their patterns to those of unaffected children of similar age and other characteristics. All children were given either a flash cue, a beep cue or a combination of both, and asked to press a button when these stimuli occurred. A cap with 70 sensors picked up the children’s brain responses every two milliseconds during these tasks, including those that recorded how the brain first processed the sensory information.

The children with autism showed a distinctly different brain wave signature from those without the condition. Specifically, the signals in those with autism showed differences in the speed in which the sights or sounds were processed, and in how the sensory neurons recruited neighbors in more far-flung areas of the brain to register and make sense of the information. And the more abnormal this multi-processing was, the more severe the child’s autistic symptoms. “By developing this tool in the older cohort of children we can then figure out which ones are the most promising and then go test them in younger children,” says Molholm.

It’s also possible that because the children she studied were older, the differences in their EEG patterns were the result of autism, rather than a sign of changes that precede the disorder. But, she says, “If you ask me to make an educated guess, I would say these are part of autism, and they represent neuropathology related to having the disorder. It seems unlikely to me that you get autism and then develop atypical auditory processing.”

Molholm says the sample was too small to use the profile for diagnosing autism, but it could lead to such a test if the results are confirmed and repeated. To confirm the findings, scientists will have to intervene with behavioral strategies for helping the different regions of the brain work in a more coordinated way when confronted with visual and auditory cues. If that reduces autism symptoms, then EEG profiling could become one of a number of new ways that doctors can start identifying those at highest risk – however young — of developing autism.

3 in 10 Former NFL Players Will Get Alzheimer’s, Dementia

Kevin Terrell—APSeattle Seahawks wide receiver Percy Harvin (11) reacts after taking a big hit during an NFL Divisional Playoff game against the New Orleans Saints on Jan. 11, 2014.

That's at least twice the rate at which the general population experiences the same diseases

Nearly 30 percent of former NFL players will develop brain conditions like Alzheimer’s or a less debilitating form of dementia, according to a report released Friday by the NFL and the NFL Players’ Association.

The data in the report was used to calculate the size of a $675 million pool that will be provided to former NFL players who suffer from brain problems as a consequence of their time as professional athletes. The information was provided to the federal judge overseeing a lawsuit against the NFL on behalf of former players.

The report said that the rate of brain conditions for former players were “materially higher than those expected in the general population” and diagnosis occurred at an earlier age, according to an Associated Press report.

The terms of the settlement provide $675 million for treatment of former players, $75 million for neurological testing and $10 million for research. The judge overseeing the case expressed concern that the funds might not be sufficient to cover the estimated 6,000 former players who may suffer from brain disorders.